Disease Term Disease ID Gene Symbol References
Franceschetti-Klein syndrome C0265241 TCOF1 31307516, 20003452, 29230583, 30390570, 20106873, 25790162, 8894686
TREACHER COLLINS SYNDROME 2 C3150983 POLR1D 21131976, 8955128
Treacher-Collins syndrome 861 TCOF1
POLR1D
POLR1C